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Recognized gene
MYO7A
Normalized c.HGVS
c.1058C>T, c.1118G>A, c.1133G>A, c.1165G>A, c.1186G>A and 44 more
Normalized p.HGVS
p.(Ala353Val), p.(Ala457Thr), p.(Ala598Thr), p.(Arg373His), p.(Arg378His) and 43 more
Matching records
302
PM3-positive records
23
Results are ordered by PM3-relevant evidence first. Reviewed source only indicates whether main text, supplementary material, or both were reviewed; it is not the evidence conclusion.
| Gene | Variant | Evidence | PM3 context | Publication | Reviewed source | Actions |
|---|---|---|---|---|---|---|
| MYO7A |
NM_000260.4:c.1369G>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.1667G>T; c.1667GT; p.G556V
context: Confirmed in trans
|
34824372
Genetic background in late-onset sensorineural hearing loss patients.
Journal of human genetics, 2022
|
Main article | |
| MYO7A |
NM_000260.4:c.1369G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1667G>T; p.G556V
context: Compound heterozygous candidate
|
38594301
The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B.
Scientific reports, 2024
|
Main article | |
| MYO7A |
NM_000260.4:c.1820C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1537G>C; p.E513Q
context: Compound heterozygous candidate
|
38594301
The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B.
Scientific reports, 2024
|
Main article | |
| MYO7A |
NM_000260.4:c.2023C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2471_2472insCCGCGCCTATCTGGTGCGCAAGGCCTTCCGCCA; p.R836_L837insAYLVRKAFRHR; insCCGCGCCTATCTGGTGCGCAAGGCCTTCCGCCA
context: Compound heterozygous candidate
|
38594301
The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B.
Scientific reports, 2024
|
Main article | |
| MYO7A |
NM_000260.4:c.5930G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1537G>C; p.E513Q
context: Compound heterozygous candidate
|
38594301
The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B.
Scientific reports, 2024
|
Main article | |
| MYO7A |
NM_000260.4:c.2476G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c. 4696 A > T; c.4696A > T
context: Compound heterozygous candidate
|
38378725
The genetic basis and the diagnostic yield of genetic testing related to nonsyndromic hearing loss in Qatar.
Scientific reports, 2024
|
Main article | |
| MYO7A |
NM_000260.4:c.4696A>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2476G > A
context: Compound heterozygous candidate
|
38378725
The genetic basis and the diagnostic yield of genetic testing related to nonsyndromic hearing loss in Qatar.
Scientific reports, 2024
|
Main article | |
| MYO7A |
NM_000260.4:c.5095C>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.C2521G; c.C4948G; c.C4981G; +11 more
context: Compound heterozygous candidate
|
36282598
The Notch1/CD22 signaling axis disrupts Treg function in SARS-CoV-2-associated multisystem inflammatory syndrome in children.
The Journal of clinical investigation, 2023
|
Supplementary material | |
| MYO7A |
NM_000260.4:c.1118G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1142C > T; p.Thr381Met
context: Compound heterozygous candidate
|
36164746
Novel compound heterozygous synonymous and missense variants in the MYO7A gene identified by next-generation sequencing in a Chinese family with nonsyndromic hearing loss.
Journal of clinical laboratory analysis, 2022
|
Main article | |
| MYO7A |
NM_000260.4:c.29T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1969C > T; p.Arg657Trp
context: Compound heterozygous candidate
|
36164746
Novel compound heterozygous synonymous and missense variants in the MYO7A gene identified by next-generation sequencing in a Chinese family with nonsyndromic hearing loss.
Journal of clinical laboratory analysis, 2022
|
Main article | |
| MYO7A |
NM_000260.4:c.2476G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
35551639
Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.
Orphanet journal of rare diseases, 2022
|
Main article | |
| MYO7A |
NM_000260.4:c.1846C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with p.R1229Q
context: Compound heterozygous candidate
|
35313637
On the association between Chiari malformation type 1, bone mineral density and bone related genes.
Bone reports, 2022
|
Main article | |
| MYO7A |
NM_000260.4:c.1399C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.5786A>G; p.Gln1929Arg
context: Compound heterozygous candidate
|
34753855
Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study.
Ear and hearing, 2022
|
Supplementary material | |
| MYO7A |
NM_000260.4:c.2386C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.4442-1G>C; p.?
context: Compound heterozygous candidate
|
34753855
Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study.
Ear and hearing, 2022
|
Supplementary material | |
| MYO7A |
NM_000260.4:c.5786A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1399C>T; p.Arg467Trp
context: Compound heterozygous candidate
|
34753855
Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study.
Ear and hearing, 2022
|
Supplementary material | |
| MYO7A |
NM_000260.4:c.1118G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1142C>T; Thr381Met; p.Thr381Met
context: Compound heterozygous candidate
|
33671976
Spectrum of MYO7A Mutations in an Indigenous South African Population Further Elucidates the Nonsyndromic Autosomal Recessive Phenotype of DFNB2 to Include Both Homozygous and Compound Heterozygous Mutations.
Genes, 2021
|
Main article | |
| MYO7A |
NM_000260.4:c.29T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1969C4T; c.620A4G; p.Arg657Trp; +1 more
context: Compound heterozygous candidate
|
33671976
Spectrum of MYO7A Mutations in an Indigenous South African Population Further Elucidates the Nonsyndromic Autosomal Recessive Phenotype of DFNB2 to Include Both Homozygous and Compound Heterozygous Mutations.
Genes, 2021
|
Main article | |
| MYO7A |
NM_000260.4:c.1232T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.6025del; p.(Ala2009Profs *32)
context: Compound heterozygous candidate
|
33297549
Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice.
Genes, 2020
|
Main article | |
| MYO7A |
NM_000260.4:c.6236G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
33105617
Lights and Shadows in the Genetics of Syndromic and Non-Syndromic Hearing Loss in the Italian Population.
Genes, 2020
|
Main article | |
| MYO7A |
NM_000260.4:c.2476G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
30881389
Novel deleterious mutation in MYO7A, TH and EVC2 in two Pakistani brothers with familial deafness.
Pakistan journal of medical sciences, 2019
|
Main article | |